Symbol
| NIPA2
| contributors: mct - updated : 16-10-2012
|
HGNC name
| non-imprinted in Prader-Willi/Angelman syndrome 2
|
HGNC id
| 17044
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
|  
| deletion
|  
|  
|
in WPS/AS syndrome | constitutional
|  
| deletion
|  
|  
|
in congenital heart disease | |
Susceptibility
|
to childhood absence epilepsy |
Variant & Polymorphism
| . microdeletions are important pathogenic CNVs for childhood absence epilepsy |
|
|
Candidate gene
Marker
Therapy target
| | | |